Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017617.5

p.L2446_G2447insFs

c.7338_7339ins4

Surrounding Variants

1 paper

NM_017617.5

p.G2447D

c.7340G>A

1 paper

NM_017617.5

p.V2443_L2446del4

c.7327_7337del12

2 papers

NM_017617.5

p.G2447C

c.7339G>T

1 paper

NM_017617.5

p.G2447S

c.7339G>A

1 paper

NM_017617.5

p.G2447_P2448insFs

c.7341_7342insGG

1 paper

NM_017617.5

p.G2447fs

c.7339_7340fs

1 paper

NM_017617.5

p.G2447delFs

c.7340delC

1 paper

NM_017617.5

p.L2446L

c.7338G>A

2 papers

NM_017617.5

p.P2448S

c.7342C>T

1 paper

NM_017617.5

p.P2448insFs

c.7342_7343insTG

1 paper

NM_017617.5

p.P2448fs

c.7342_7343fs

1 paper

NM_017617.5

p.L2446Q

c.7337T>A